Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Johanna Uusimaa

Showing results (11-20 of 91) with videos related to

Pageof 10
Sort By:
BMC Neurology|May 20, 2017
Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorderLaura Kytövuori, Mikko Kärppä, Hannu Tuominen, et al.
Genesis (New York, N.Y. : 2000)|March 8, 2022
Nhlrc2 is crucial during mouse gastrulationAnniina E Hiltunen, Reetta Vuolteenaho, Veli-Pekka Ronkainen, et al.
Pediatrics|August 3, 2004
Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genesJohanna Uusimaa, Saara Finnilä, Anne M Remes, et al.
Neuropediatrics|April 8, 2017
Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency Associated with Hepatoencephalomyopathy and White Matter Signal Abnormalities on Brain MRIPäivi Vieira, Päivi Myllynen, Marja Perhomaa, et al.
JMIR Human Factors|May 30, 2025
Requirement Analysis for Data-Driven Electroencephalography Seizure Monitoring Software to Enhance Quality and Decision Making in Digital Care Pathways for Epilepsy: A Feasibility Study from the Perspectives of Health Care ProfessionalsPantea Keikhosrokiani, Johanna Annunen, Jonna Komulainen-Ebrahim, et al.
Pediatrics|March 4, 2003
A mutation in mitochondrial DNA-encoded cytochrome c oxidase II gene in a child with Alpers-Huttenlocher-like diseaseJohanna Uusimaa, Saara Finnilä, Leena Vainionpää, et al.
JMIR Human Factors|November 11, 2025
Correction: Requirement Analysis for Data-Driven Electroencephalography Seizure Monitoring Software to Enhance Quality and Decision Making in Digital Care Pathways for Epilepsy: A Feasibility Study from the Perspectives of Health Care ProfessionalsPantea Keikhosrokiani, Johanna Annunen, Jonna Komulainen-Ebrahim, et al.
BMC Medical Genetics|February 12, 2017
A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial diseaseHeidi K Soini, Antti Väisänen, Mikko Kärppä, et al.
Neuromuscular Disorders : NMD|February 24, 2026
Muscle biopsy and mitochondrial disease criteria as diagnostic tools for paediatric patients presenting with neuromuscular phenotypes: highlighting the role of secondary mitochondrial dysfunctionMilla-Riikka Hautakangas, Tommi Niskanen, Päivi Vieira, et al.
Human Molecular Genetics|July 20, 2006
The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex IMarko Kervinen, Reetta Hinttala, Heli M Helander, et al.
Pageof 10

Showing results (11-20 of 91) with videos related to

Sort By:
Pageof 10
BMC Neurology|May 20, 2017
Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorderLaura Kytövuori, Mikko Kärppä, Hannu Tuominen, et al.
Genesis (New York, N.Y. : 2000)|March 8, 2022
Nhlrc2 is crucial during mouse gastrulationAnniina E Hiltunen, Reetta Vuolteenaho, Veli-Pekka Ronkainen, et al.
Pediatrics|August 3, 2004
Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genesJohanna Uusimaa, Saara Finnilä, Anne M Remes, et al.
Neuropediatrics|April 8, 2017
Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency Associated with Hepatoencephalomyopathy and White Matter Signal Abnormalities on Brain MRIPäivi Vieira, Päivi Myllynen, Marja Perhomaa, et al.
JMIR Human Factors|May 30, 2025
Requirement Analysis for Data-Driven Electroencephalography Seizure Monitoring Software to Enhance Quality and Decision Making in Digital Care Pathways for Epilepsy: A Feasibility Study from the Perspectives of Health Care ProfessionalsPantea Keikhosrokiani, Johanna Annunen, Jonna Komulainen-Ebrahim, et al.
Pediatrics|March 4, 2003
A mutation in mitochondrial DNA-encoded cytochrome c oxidase II gene in a child with Alpers-Huttenlocher-like diseaseJohanna Uusimaa, Saara Finnilä, Leena Vainionpää, et al.
JMIR Human Factors|November 11, 2025
Correction: Requirement Analysis for Data-Driven Electroencephalography Seizure Monitoring Software to Enhance Quality and Decision Making in Digital Care Pathways for Epilepsy: A Feasibility Study from the Perspectives of Health Care ProfessionalsPantea Keikhosrokiani, Johanna Annunen, Jonna Komulainen-Ebrahim, et al.
BMC Medical Genetics|February 12, 2017
A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial diseaseHeidi K Soini, Antti Väisänen, Mikko Kärppä, et al.
Neuromuscular Disorders : NMD|February 24, 2026
Muscle biopsy and mitochondrial disease criteria as diagnostic tools for paediatric patients presenting with neuromuscular phenotypes: highlighting the role of secondary mitochondrial dysfunctionMilla-Riikka Hautakangas, Tommi Niskanen, Päivi Vieira, et al.
Human Molecular Genetics|July 20, 2006
The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex IMarko Kervinen, Reetta Hinttala, Heli M Helander, et al.
Pageof 10